Canonical Allele Identifier: CA547366958

Gene: CLRN1

Linked Data

• dbSNP Id: rs1262696260
• gnomAD v2: 3-150659531-TGAGCAAATCTG-T
• gnomAD v3: 3-150941744-TGAGCAAATCTG-T
• gnomAD v4: 3-150941744-TGAGCAAATCTG-T
• MyVariant Identifiers: chr3:g.150659532_150659542del (hg19) ; chr3:g.150941745_150941755del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941747_150941757del , CM000665.2:g.150941747_150941757del	GRCh38
NC_000003.11:g.150659534_150659544del , CM000665.1:g.150659534_150659544del	GRCh37
NC_000003.10:g.152142224_152142234del	NCBI36
NG_009168.1:g.36245_36255del , LRG_700:g.36245_36255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.260_270del MANE Select	ENSP00000322280.1:p.Pro87GlnfsTer?
ENST00000468836.2:c.408_418del	ENSP00000419892.2:p.Arg137LysfsTer5
ENST00000644099.1:c.252_262del	ENSP00000494762.1:n.252_262del
ENST00000295911.6:c.32_42del	ENSP00000295911.2:p.Pro11GlnfsTer?
ENST00000327047.5:c.260_270del	ENSP00000322280.1:p.Pro87GlnfsTer?
ENST00000328863.8:c.260_270del	ENSP00000329158.4:p.Pro87GlnfsTer?
ENST00000468836.1:c.32_42del	ENSP00000419892.1:p.Pro11GlnfsTer?
ENST00000472224.1:n.266_276del
ENST00000485607.1:c.-77_-67del	ENSP00000419244.1:n.-77_-67del
NM_001195794.1:c.260_270del , LRG_700t1:c.260_270del	NP_001182723.1:p.Pro87GlnfsTer?
NM_001256819.1:c.432_442del	NP_001243748.1:p.Arg145LysfsTer5
NM_052995.2:c.32_42del , LRG_700t2:c.32_42del	NP_443721.1:p.Pro11GlnfsTer?
NM_174878.2:c.260_270del	NP_777367.1:p.Pro87GlnfsTer?
NR_046380.2:n.702_712del
XR_924167.1:n.572_582del
NM_001256819.2:c.432_442del	NP_001243748.1:p.Arg145LysfsTer5
NM_174878.3:c.260_270del MANE Select	NP_777367.1:p.Pro87GlnfsTer?
NR_046380.3:n.430_440del